view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IQGAP2_chr5_76398285_76713132 | 76496750 | TTTCTTTC others(20): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0025 | a0025c0032 | a0025c0032t0004 | a0025c0032t0004g0113 | 1 | 218 | 0.0046 | -27 | c.146 others(46): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ISLR_chr15_74168710_74181871 | 74177557 | TGTGTGTG others(20): Show |
T | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 8 | 432 | 0.0185 | -27 | c.*14 others(38): Show |
ISLR | ENSG00000129009.13 | transcript | ENST00000249842.8 | protein_coding | 687 | chr15 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52889088 | GCTGCTCT others(20): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00597.hp1 others(38): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0012others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0044 a0001c0001t0001g0067 a0001c0001t0001g0232 others(38): Show |
41 | 320 | 0.1281 | -27 | c.924 others(44): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 8/28 | chr5 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52910878 | TGGTATGT others(20): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02723.hp1 HG02970.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0016a0001c0001t0028a0001c0001t0037others(4): Show | a0001c0001t0016g0017 a0001c0001t0028g0277 a0001c0001t0037g0175 others(4): Show |
7 | 320 | 0.0219 | -27 | c.185 others(44): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52910983 | GTATACTA others(20): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(13): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0016others(12): Show | a0001c0001t0005g0134 a0001c0001t0006g0088 a0001c0001t0016g0017 others(13): Show |
16 | 320 | 0.0500 | -27 | c.185 others(44): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52911024 | GTATGTAT others(20): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(132): Show | a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0197 others(224): Show |
229 | 320 | 0.7156 | -27 | c.185 others(44): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52911605 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG03098.hp2 HG03209.hp1 others(3): Show |
a0001a0007 | a0001c0001a0001c0004a0007c0016 | a0001c0001t0006a0001c0001t0027a0001c0001t0032others(3): Show | a0001c0001t0006g0088 a0001c0001t0027g0081 a0001c0001t0032g0237 others(3): Show |
6 | 319 | 0.0188 | -27 | c.185 others(46): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52912456 | GGTATTAT others(20): Show |
G | intron_variant | MODIFIER | HG06807.hp1 NA18994.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0039a0001c0003t0021 | a0001c0001t0039g0253 a0001c0003t0021g0302 |
2 | 320 | 0.0063 | -27 | c.185 others(46): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52912483 | TGTATTAT others(20): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(84): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(54): Show | a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0214 others(84): Show |
87 | 135 | 0.6444 | -27 | c.185 others(46): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA2B_chr17_44367181_44394649 | 44368128 | ATATATAT others(20): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG02735.hp2 NA18979.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0015 others(3): Show |
7 | 309 | 0.0227 | -27 | c.*42 others(38): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4052 | chr17 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368130 | ATATATAT others(20): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01993.hp1 HG03239.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0009 others(1): Show |
6 | 322 | 0.0186 | -27 | c.*42 others(38): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4050 | chr17 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37512008 | CTTTTCTT others(20): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0010 | a0002c0010t0003 | a0002c0010t0003g0049 | 1 | 163 | 0.0061 | -27 | c.898 others(44): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31272443 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0112 | 1 | 220 | 0.0045 | -27 | c.704 others(42): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31272445 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0113 | 1 | 227 | 0.0044 | -27 | c.704 others(42): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31299749 | TCTCCTCC others(20): Show |
T | intron_variant | MODIFIER | HG01891.hp2 NA18906.hp2 |
a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0139 a0001c0008t0004g0140 |
2 | 242 | 0.0083 | -27 | c.170 others(46): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334528 | TTCCTTCC others(20): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0113 a0001c0001t0004g0114 |
2 | 242 | 0.0083 | -27 | c.*28 others(38): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1652 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31334555 | CTCCTTCC others(20): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp2 NA20752.hp2 |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0029 a0003c0004t0005g0096 |
2 | 221 | 0.0090 | -27 | c.*28 others(38): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1679 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31334598 | TTCCTTTC others(20): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 NA18906.hp2 |
a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0139 a0001c0008t0004g0140 |
2 | 242 | 0.0083 | -27 | c.*28 others(38): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1722 | chr16 | TogoVar | |||||||
ITIH2_chr10_7698316_7754520 | 7738221 | TATAATAT others(20): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 378 | 0.0026 | -27 | c.195 others(44): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH3_chr3_52789796_52813797 | 52803289 | TATTTATT others(20): Show |
T | intron_variant | MODIFIER | NA19086.hp2 | a0023 | a0023c0039 | a0023c0039t0001 | a0023c0039t0001g0041 | 1 | 412 | 0.0024 | -27 | c.170 others(44): Show |
ITIH3 | ENSG00000162267.14 | transcript | ENST00000449956.3 | protein_coding | 13/21 | chr3 | TogoVar | |||||||
ITIH3_chr3_52789796_52813797 | 52803292 | TTATTTAT others(20): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG03239.hp1 HG03669.hp2 others(3): Show |
a0004 | a0004c0008a0004c0018 | a0004c0008t0001a0004c0018t0001 | a0004c0008t0001g0017 a0004c0008t0001g0050 a0004c0018t0001g0016 |
6 | 412 | 0.0146 | -27 | c.170 others(44): Show |
ITIH3 | ENSG00000162267.14 | transcript | ENST00000449956.3 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7566820 | GGAAGAGG others(20): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0008 | a0004c0008t0005 | a0004c0008t0005g0269 | 1 | 245 | 0.0041 | -27 | c.215 others(44): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7566826 | GGAAGAGG others(20): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01255.hp2 HG02083.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0002c0015others(4): Show | a0001c0001t0001a0002c0003t0001a0002c0015t0001others(4): Show | a0001c0001t0001g0052 a0001c0001t0001g0173 a0002c0003t0001g0340 others(6): Show |
9 | 234 | 0.0385 | -27 | c.215 others(44): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7566832 | GGAAGAGG others(20): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(22): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0002c0003others(9): Show | a0001c0001t0001a0001c0006t0001a0002c0003t0001others(10): Show | a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0069 others(22): Show |
25 | 188 | 0.1330 | -27 | c.215 others(44): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7566838 | GGAAGAGG others(20): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG02300.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0009 | a0001c0001t0001a0002c0004t0001a0002c0009t0001 | a0001c0001t0001g0060 a0001c0001t0001g0067 a0002c0004t0001g0186 others(1): Show |
4 | 249 | 0.0161 | -27 | c.215 others(44): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITM2B_chr13_48228206_48275357 | 48229664 | CTCTCTCT others(20): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0005 | 1 | 328 | 0.0030 | -27 | c.-36 others(38): Show |
ITM2B | ENSG00000136156.15 | transcript | ENST00000647800.2 | protein_coding | 3541 | chr13 | TogoVar | |||||||
ITPKA_chr15_41488874_41508551 | 41502267 | GCTCCCGC others(20): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01074.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 5 | 424 | 0.0118 | -27 | c.100 others(42): Show |
ITPKA | ENSG00000137825.11 | transcript | ENST00000260386.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4624965 | GTGTCTTT others(20): Show |
G | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0085 | 1 | 174 | 0.0057 | -27 | c.164 others(44): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | chr3 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26589810 | AAATAAAT others(20): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0035 | a0001c0035t0027 | a0001c0035t0027g0013 | 1 | 132 | 0.0076 | -27 | c.438 others(46): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 32/56 | chr12 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147619227 | TAAGGATA others(20): Show |
T | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 248 | 0.0040 | -27 | c.214 others(46): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 18/21 | chr5 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132149764 | GCCCTACC others(20): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG02615.hp1 HG02717.hp1 others(1): Show |
a0001a0004 | a0001c0006a0004c0043 | a0001c0006t0003a0004c0043t0005 | a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0003g0151 others(1): Show |
4 | 154 | 0.0260 | -27 | c.194 others(44): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132159011 | CCCTGTGT others(20): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
a0002 | a0002c0005a0002c0010 | a0002c0005t0002a0002c0010t0009 | a0002c0005t0002g0060 a0002c0005t0002g0095 a0002c0010t0009g0086 others(2): Show |
5 | 153 | 0.0327 | -27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160031 | AGCCTCTT others(20): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01167.hp1 |
a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0042 a0002c0004t0004g0142 |
2 | 75 | 0.0267 | -27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160368 | GGGGGGGT others(20): Show |
G | intron_variant | MODIFIER | HG02717.hp1 NA18522.hp1 NA19043.hp1 |
a0001a0004 | a0001c0017a0004c0043 | a0001c0017t0005a0001c0017t0029a0004c0043t0005 | a0001c0017t0005g0079 a0001c0017t0029g0012 a0004c0043t0005g0126 |
3 | 156 | 0.0192 | -27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160495 | TGGGGGGG others(20): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG02015.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0019a0002c0023others(3): Show | a0001c0006t0024a0001c0019t0001a0002c0023t0001others(3): Show | a0001c0006t0024g0155 a0001c0019t0001g0154 a0002c0023t0001g0058 others(4): Show |
7 | 124 | 0.0565 | -27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160946 | GTGGGCCT others(20): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0004 | a0004c0024 | a0004c0024t0002 | a0004c0024t0002g0153 | 1 | 102 | 0.0098 | -27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132161258 | GGGGCCTC others(20): Show |
G | intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0051 | 1 | 154 | 0.0065 | -27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161577 | ATCTCTCC others(20): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0042 | a0001c0042t0022 | a0001c0042t0022g0127 | 1 | 139 | 0.0072 | -27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161631 | GTCTCTCC others(20): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02135.hp2 |
a0001a0005 | a0001c0006a0005c0012 | a0001c0006t0033a0005c0012t0007 | a0001c0006t0033g0057 a0005c0012t0007g0045 a0005c0012t0007g0048 |
3 | 75 | 0.0400 | -27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JCHAIN_chr4_70650541_70671508 | 70667065 | ATGTATTT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(15): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(6): Show |
18 | 307 | 0.0586 | -27 | c.-60 others(36): Show |
JCHAIN | ENSG00000132465.12 | transcript | ENST00000254801.9 | protein_coding | 558 | chr4 | TogoVar | |||||||
JHY_chr11_122877759_122968862 | 122926193 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(55): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0100 a0001c0002t0001g0189 a0001c0002t0002g0023 others(54): Show |
58 | 330 | 0.1758 | -27 | c.978 others(44): Show |
JHY | ENSG00000109944.11 | transcript | ENST00000227349.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JMJD8_chr16_676670_689334 | 679918 | GGATGGGG others(20): Show |
G | downstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 362 | 0.0028 | -27 | c.*28 others(38): Show |
JMJD8 | ENSG00000161999.13 | transcript | ENST00000609261.6 | protein_coding | 1751 | chr16 | TogoVar | |||||||
JMY_chr5_79231131_79332211 | 79270614 | GTTTATAT others(20): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02965.hp2 HG03130.hp1 |
a0003 | a0003c0010 | a0003c0010t0016a0003c0010t0036 | a0003c0010t0016g0197 a0003c0010t0016g0198 a0003c0010t0036g0196 |
3 | 191 | 0.0157 | -27 | c.103 others(46): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44188562 | GTGTGTGG others(20): Show |
G | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG03098.hp2 others(1): Show |
a0001a0002 | a0001c0004a0002c0009a0002c0010 | a0001c0004t0044a0002c0009t0058a0002c0010t0014others(1): Show | a0001c0004t0044g0092 a0002c0009t0058g0098 a0002c0010t0014g0222 others(1): Show |
4 | 336 | 0.0119 | -27 | c.-18 others(38): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 1375 | chr20 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87597720 | TCACCATC others(20): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01496.hp2 HG01884.hp1 others(31): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0006a0001c0001t0038a0001c0002t0001others(19): Show | a0001c0001t0006g0159 a0001c0001t0038g0157 a0001c0002t0001g0002 others(30): Show |
34 | 378 | 0.0899 | -27 | c.-54 others(38): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 4787 | chr16 | TogoVar | |||||||
JTB_chr1_153969269_153982674 | 153982326 | CACACACA others(20): Show |
C | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | -27 | c.-51 others(38): Show |
JTB | ENSG00000143543.15 | transcript | ENST00000271843.9 | protein_coding | 4653 | chr1 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124069311 | TAGGAGGA others(20): Show |
T | intron_variant | MODIFIER | HG00438.hp1 | a0005 | a0005c0048 | a0005c0048t0003 | a0005c0048t0003g0007 | 1 | 9 | 0.1111 | -27 | c.73+ others(44): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124246517 | TTGGCTGG others(20): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG03516.hp2 |
a0001a0008 | a0001c0012a0008c0045 | a0001c0012t0010a0008c0045t0010 | a0001c0012t0010g0077 a0008c0045t0010g0076 |
2 | 114 | 0.0175 | -27 | c.263 others(46): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 3/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210069789 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp2 HG02559.hp1 others(8): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(2): Show | a0001c0001t0001g0137 a0001c0001t0001g0158 a0001c0001t0001g0165 others(8): Show |
11 | 108 | 0.1019 | -27 | c.175 others(46): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 6/14 | chr2 | TogoVar | |||||||
KAT2A_chr17_42108111_42126367 | 42118095 | AGCTGAGG others(20): Show |
A | intron_variant | MODIFIER | NA19011.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0047 | 1 | 352 | 0.0028 | -27 | c.118 others(43): Show |
KAT2A | ENSG00000108773.11 | transcript | ENST00000225916.10 | protein_coding | 7/17 | chr17 | TogoVar |